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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4076 - 4100** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0060404	chromosome 17q12 deletion syndrome Aliases: 17q12 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0060400	chromosome 16p12.2-p11.2 deletion syndrome Aliases: 16p11.2-p12.2 microdeletion syndrome 16p11.2p12.2 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0060391	chromosome 13q14 deletion syndrome Aliases: deletion 13q14	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:1932	Angelman syndrome Aliases: happy puppet syndrome puppetlike syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0060411	chromosome 1q21.1 deletion syndrome Aliases: 1q21.1 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0060425	chromosome 8q21.11 deletion syndrome Aliases: 8q21.11 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0060390	distal 10q deletion syndrome Aliases: chromosome 10q26 deletion syndrome distal monosomy 10q monosomy 10qter telomeric deletion 10q terminal chromosome 10q26 deletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0060428	SATB2-associated syndrome Aliases: 2q32-q33 microdeletion syndrome 2q32q33 microdeletion syndrome Glass syndrome chromosome 2q32-q33 deletion syndrome monosomy 2q32 monosomy 2q32-q33 monosomy 2q32q33	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0060407	chromosome 18q deletion syndrome Aliases: 18q- syndrome deletion 18q monosomy 18q	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0060394	chromosome 15q13.3 microdeletion syndrome Aliases: 15q13.3 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0060395	chromosome 15q24 deletion syndrome Aliases: 15q24 microdeletion syndrome	CYP11A1 FREM1 NEIL1 PAFAH1B1 PRNP	1583 158326 5048 5621 79661	Homo sapiens (human)
DOID:0060768	Smith-Magenis syndrome Aliases: 17p11.2 microdeletion syndrome chromosome 17p11.2 deletion syndrome	CYP11A1 FREM1 GAD2 NT5M PAFAH1B1 PRNP STS	1583 158326 2572 412 5048 5621 56953	Homo sapiens (human)
DOID:10686	lactocele Aliases: Galactocele	CYP11A1 CYP17A1 HSD17B1 PTEN PTGES	1583 1586 3292 5728 9536	Homo sapiens (human)
DOID:3463	breast disease	CYP11A1 CYP17A1 HSD17B1 PTEN PTGES	1583 1586 3292 5728 9536	Homo sapiens (human)
DOID:0070189	X-linked spermatogenic failure 1 Aliases: SPGFX1	CYP11A1 CYP17A1 CYP19A1 CYP2R1 GAPDH HSD3B2 PGAM1 PIK3CA PIK3CB PIK3CD PIK3CG PRPS2 TEX101	120227 1583 1586 1588 2597 3284 5223 5290 5291 5293 5294 5634 83639	Homo sapiens (human)
DOID:10688	hypertrophy of breast Aliases: breasts enlarged large breast	CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP3A4 HS6ST1 HSD17B3 HSD3B2 PIK3CA PNPLA6 PTEN SDHB SDHC SDHD SMUG1	10908 1576 1583 1584 1586 1588 1589 23583 3284 3293 5290 5728 6390 6391 6392 9394	Homo sapiens (human)
DOID:11603	infant gynecomastia Aliases: Neonatal gynaecomastia breast engorgement in newborn	CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP3A4 HS6ST1 HSD17B3 HSD3B2 PIK3CA PNPLA6 PTEN SDHB SDHC SDHD SMUG1 SRGN	10908 1576 1583 1584 1586 1588 1589 23583 3284 3293 5290 5552 5728 6390 6391 6392 9394	Homo sapiens (human)
DOID:12698	gynecomastia	CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP3A4 HS6ST1 HSD17B3 HSD3B2 PIK3CA PNPLA6 PTEN SDHB SDHC SDHD SMUG1 SRGN	10908 1576 1583 1584 1586 1588 1589 23583 3284 3293 5290 5552 5728 6390 6391 6392 9394	Homo sapiens (human)
DOID:0060076	estrogen-receptor negative breast cancer	CYB5R3	1727	Homo sapiens (human)
DOID:0070254	congenital disorder of glycosylation type IIb Aliases: CDG IIb CDG2B CDGIIb glucosidase I deficiency	CWH41	852857	Saccharomyces cerevisiae S288C
DOID:0080523	adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Aliases: hereditary diffuse leukoencephalopathy with spheroids	CTSA	5476	Homo sapiens (human)
DOID:8704	genital herpes Aliases: Genital herpes simplex Herpes Genitalis Virus-Genital Herpes venereal herpes	CTSA	5476	Homo sapiens (human)
DOID:0080540	galactosialidosis	CTSA GLB1 HPRT1 NEU1	2720 3251 4758 5476	Homo sapiens (human)
DOID:0111392	mucopolysaccharidosis type IVB Aliases: MPS IVB MPS4B Morquio disease type B Morquio syndrome B beta-D-galactosidase deficiency mucopolysaccharidosis type IVB (Morquio)	CTSA GALNS GLB1 IDUA NEU1 OGA	10724 2588 2720 3425 4758 5476	Homo sapiens (human)
DOID:0111035	CADASIL 1 Aliases: autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1	CTSA DCN	1634 5476	Homo sapiens (human)

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